Schilbach-Rott syndrome

Orpha code: 2353OMIM code: 164220

Definition

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.

Disease data
Classification

Malformation syndrome

Synonyms
BRSS
BRSS
Hipoteloryzm - rozszczep podniebienia - spodziectwo
Hypotelorism-cleft palate-hypospadias syndrome
ORPHA code
2353
OMIM code
164220
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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